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Montserrat Ruiz

5PUBLICATIONS

32CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Innate immunityMedical parasitologyNeurology and neuromuscular diseases

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Publications (5)

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|Sep 03, 2024

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão

|Apr 14, 2021

Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain.

Jesús Troya, Paul Bastard, Laura Planas-Serra

|Nov 27, 2020

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura

|Dec 18, 2019

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".

Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez

|Aug 22, 2019

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

Beatriz De la Casa-Fages, Gorka Fernández-Eulate, Josep Gamez

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Frequent Collaborators

3 joint publications

Aurora Pujol

2 joint publications

Carlos Casasnovas

1 joint publications

Jesús Troya

1 joint publications

Paul Bastard

1 joint publications

Laura Planas-Serra

1 joint publications

Pablo Ryan

1 joint publications

María de Carranza

1 joint publications

Juan Torres

1 joint publications

Laurent Abel

1 joint publications

Jean-Laurent Casanova

Frequent Collaborators

3 joint publications

Aurora Pujol

2 joint publications

Carlos Casasnovas

1 joint publications

Jesús Troya

1 joint publications

Paul Bastard

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